De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Jonathan R. Belyeu, Harrison Brand, Harold Wang, Xuefang Zhao, Brent S. Pedersen, Julie Ellen Feusier, Meenal Gupta, Thomas J. Nicholas, Joseph Brown, Lisa Morrison Baird, Bernie Devlin, Stephan Sanders, Lynn B. Jorde, Michael E. Talkowski, Aaron R. Quinlan
The paper reports de novo structural mutation rates and gamete-of-origin biases using genome sequencing of 2,396 families, finding higher rates in autism cases and paternal origin dominance.
The American Journal of Human Genetics · Mar 6, 2021Peer-reviewedGenomics